ClinVar Miner

List of variants in gene SMCHD1 reported as benign by Invitae

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.4967-15G>T rs300291 0.98262
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile) rs2276092 0.71166
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=) rs635132 0.60549
NM_015295.3(SMCHD1):c.4629C>T (p.Gly1543=) rs483547 0.39322
NM_015295.3(SMCHD1):c.2637A>T (p.Lys879Asn) rs633422 0.32971
NM_015295.3(SMCHD1):c.1843-17T>A rs8090988 0.32584
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_015295.3(SMCHD1):c.5476+10A>G rs3213926 0.28248
NM_015295.3(SMCHD1):c.399T>C (p.Tyr133=) rs7239096 0.03555
NM_015295.3(SMCHD1):c.2878A>G (p.Ile960Val) rs9961682 0.03402
NM_015295.3(SMCHD1):c.3612A>T (p.Ser1204=) rs115632137 0.03072
NM_015295.3(SMCHD1):c.1843-18T>A rs116599328 0.02018
NM_015295.3(SMCHD1):c.3802-16T>G rs79829175 0.01859
NM_015295.3(SMCHD1):c.873+7T>C rs114242799 0.00957
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949 0.00181
NM_015295.3(SMCHD1):c.5878+12C>G rs148698681 0.00138
NM_015295.3(SMCHD1):c.150C>G (p.Arg50=) rs139872818 0.00086
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_015295.3(SMCHD1):c.3633+7C>T rs200391083 0.00060
NM_015295.3(SMCHD1):c.4521A>G (p.Ser1507=) rs201821082 0.00053
NM_015295.3(SMCHD1):c.3872A>G (p.Asn1291Ser) rs201497685 0.00017
NM_015295.3(SMCHD1):c.3138A>T (p.Gly1046=) rs138078408 0.00010
NM_015295.3(SMCHD1):c.522A>G (p.Thr174=) rs370798030 0.00010
NM_015295.3(SMCHD1):c.1731A>G (p.Thr577=) rs369778016 0.00009
NM_015295.3(SMCHD1):c.2147-5C>T rs184984483 0.00008
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_015295.3(SMCHD1):c.1843-12del
NM_015295.3(SMCHD1):c.2604-7del rs142973168
NM_015295.3(SMCHD1):c.2701-8del rs886044517
NM_015295.3(SMCHD1):c.2701-8dup rs886044517
NM_015295.3(SMCHD1):c.3634-10dup rs763101269
NM_015295.3(SMCHD1):c.4166-14G>A
NM_015295.3(SMCHD1):c.4434+17del rs781729128
NM_015295.3(SMCHD1):c.4434+17dup
NM_015295.3(SMCHD1):c.4567-9dup rs772038791
NM_015295.3(SMCHD1):c.4847-6del rs763328487
NM_015295.3(SMCHD1):c.4847-6dup rs763328487
NM_015295.3(SMCHD1):c.5175+22del
NM_015295.3(SMCHD1):c.5477-3dup
NM_015295.3(SMCHD1):c.5878+17del
NM_015295.3(SMCHD1):c.638+27del rs74270564
NM_015295.3(SMCHD1):c.638+27dup

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