List of variants in gene BLM studied for reproductive system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)	rs189925962	0.00010
NM_000057.4(BLM):c.3229G>A (p.Val1077Met)	rs779096973	0.00005
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)	rs201427280	0.00004
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn)	rs772176483	0.00003
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)	rs779746222	0.00002
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)	rs763827222	0.00002
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)	rs777492549	0.00001
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg)	rs1895978967
NM_000057.4(BLM):c.2498C>T (p.Ala833Val)
NM_000057.4(BLM):c.3254dup (p.Arg1086fs)
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu)	rs375896520
NM_000057.4(BLM):c.400A>G (p.Thr134Ala)

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